CDKL5 Proband Entry
Entry ID: cp429
Systematic name: c.1925delT
Protein name: p.Leu642Argfs*16
Alternate name(s): p.L642fs
Mutation type: frameshift insertion and/or deletion
Domain: not specified
Pathogenicity class: pathogenic variant
Gender: Male
Phenotype: Not Rett syndrome - early-onset epileptic encephalopathy
Other mutation:
X-inactivation results: Not applicable
Chromosomal abnormality: Not known
Method of testing: targeted sequencing, 65 genes, CDKL5 covered at ~95% at >25x
Source of DNA: not stated
Familial testing: No
Familial X-inactivation:
Control screening: No
dbSNP ID:
Source: Carvill, G.L., Heavin, S.B., Yendle, S.C., McMahon, J.M., O'Roak, B.J., Cook, J., Khan, A., Dorschner, M.O., Waver, M., Calbert, S., Malone, S., Wallace, G., Stanley, T., Bye, A.M.E., Bleasel, A., Howell, K.B., Kivity, S., Mackay, M.T., Rodriguez-Casero, V., Webster, R., Korczyn, A., Afawi, Z., Zelnick, N., Lerman-Sagie, T., Lev, D., Moller, R.S., Gill, D., Andrade, D.M., Freeman, J.L., Saleir, L.G., Shendure, J., Berkovic, S.F., Scheffer, I.E., Mefford, H.C. (2013) Targeted resequencing in epileptic encephalopathies identified de novo mutations in CHD2 and SYNGAP1. Nature Genetics 45:825-830. Pubmed ID: 23708187
Publication ID: T24139
Comments:
Entry last updated on: 2018-06-05 13:45:42
Similar entries in the proband database
cDNA name | Protein name | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|
c.1925delT | p.Leu642Argfs*16 | Not Rett syndrome - infantile spasms | Male | 23708187 Carvill et al (2013) | cp426 |
Displaying a total number of 1 proband entries.